optic atrophy 1

Term ID

DOID:0111441

Synonyms

• OPA1

Definition

An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. (3)

References

• OMIM:165500

Ontology

Human Disease   ( DOID:0111441 )